Stokes D C, Phillips J A, Leonard C O, Dorst J P, Kopits S E, Trojak J E, Brown D L
J Pediatr. 1983 Apr;102(4):534-41. doi: 10.1016/s0022-3476(83)80180-2.
Nine patients with achondroplasia who were seen over a three-year period developed significant respiratory complications. Eight had sleep-disordered breathing, including obstructive sleep apnea in five, for which two required tracheostomy. Of the seven patients with significant hypoxemia, five had clinical evidence of cor pulmonale and recurrent pulmonary infiltrates. Two patients died, one with autopsy findings of compression of the medulla at the level of the foramen magnum and one with respiratory and cardiac failure. Appropriate therapy for our patients depended on recognition of the mechanisms that led to the respiratory complications, including (1) chest deformity, (2) upper airway obstruction and sleep-disordered breathing, (3) neurologic complications, and (4) coincidental chronic pulmonary conditions such as asthma.
在三年时间里接诊的9例软骨发育不全患者出现了严重的呼吸并发症。8例存在睡眠呼吸障碍，其中5例为阻塞性睡眠呼吸暂停，2例因此需要气管切开术。7例有明显低氧血症的患者中，5例有肺心病和反复肺部浸润的临床证据。2例患者死亡，1例尸检发现延髓在枕骨大孔水平受压，另1例死于呼吸和心力衰竭。对我们这些患者的恰当治疗取决于对导致呼吸并发症机制的认识，这些机制包括：（1）胸廓畸形；（2）上气道阻塞和睡眠呼吸障碍；（3）神经并发症；（4）并存的慢性肺部疾病，如哮喘。
